Variant information


Systematic Name
(NM_004992.3:)		 c.822_1184del363
Protein name
(NP_004983)		 p.Val275_Ser396del
Alternate systematic Name
(NM_001110792.1:)		 c.858_1220del363
Alternate Protein name
(NP_001104262)		 p.(Val287_Ser407del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296095_153296457del363
Mutation type in-frame insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.822_1184del363 p.Val275_Ser396del Female Rett syndrome-not certain 3276 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 View details